Canonical Allele Identifier: CA10631190

Gene: UROS

Linked Data

• ClinVar Variation Id: 299196
• ClinVar RCV Id: RCV000391553
• dbSNP Id: rs73381212
• gnomAD v2: 10-127511602-C-A
• gnomAD v3: 10-125823033-C-A
• gnomAD v4: 10-125823033-C-A
• MyVariant Identifiers: chr10:g.127511602C>A (hg19) ; chr10:g.125823033C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125823033C>A , CM000672.2:g.125823033C>A	GRCh38
NC_000010.10:g.127511602C>A , CM000672.1:g.127511602C>A	GRCh37
NC_000010.9:g.127501592C>A	NCBI36
NG_011557.1:g.5236G>T
NG_029095.1:g.4499C>A
NG_011557.2:g.5236G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.-31G>T	ENSP00000518871.1:n.-31G>T
ENST00000368797.10:c.-31G>T MANE Select	ENSP00000357787.4:n.-31G>T
ENST00000648119.1:c.-31G>T	ENSP00000497494.1:n.-31G>T
ENST00000648427.1:c.-31G>T	ENSP00000497909.1:n.-31G>T
ENST00000649450.1:n.7G>T
ENST00000649536.1:c.-31G>T	ENSP00000497817.1:n.-31G>T
ENST00000368774.1:c.-31G>T	ENSP00000357763.1:n.-31G>T
ENST00000368778.7:c.-31G>T	ENSP00000357767.3:n.-31G>T
ENST00000368797.8:c.-31G>T	ENSP00000357787.4:n.-31G>T
ENST00000420761.5:c.-31G>T	ENSP00000414833.1:n.-31G>T
NM_000375.2:c.-31G>T	NP_000366.1:n.-31G>T
XM_005270137.2:c.-31G>T	XP_005270194.1:n.-31G>T
XM_005270139.2:c.-31G>T	XP_005270196.1:n.-31G>T
XM_005270140.3:c.-31G>T	XP_005270197.1:n.-31G>T
XM_006717960.2:c.-27+174G>T	XP_006718023.1:n.-27+174G>T
XM_011540126.1:c.-31G>T	XP_011538428.1:n.-31G>T
XM_011540127.1:c.-31G>T	XP_011538429.1:n.-31G>T
XR_246103.2:n.78G>T
XR_945809.1:n.78G>T
XR_945810.1:n.78G>T
NM_000375.3:c.-31G>T MANE Select	NP_000366.1:n.-31G>T
NM_001324036.1:c.-31G>T	NP_001310965.1:n.-31G>T
NM_001324037.1:c.-31G>T	NP_001310966.1:n.-31G>T
NM_001324038.1:c.-31G>T	NP_001310967.1:n.-31G>T
NM_001324039.1:c.-31G>T	NP_001310968.1:n.-31G>T
NR_136675.1:n.236G>T
NR_136676.1:n.236G>T
NR_136677.1:n.236G>T
NR_136678.1:n.236G>T
XM_005270140.5:c.-31G>T	XP_005270197.1:n.-31G>T
XM_011540127.2:c.-31G>T	XP_011538429.1:n.-31G>T
XM_017016611.2:c.-27+174G>T	XP_016872100.2:n.-27+174G>T
XM_017016612.2:c.-31G>T	XP_016872101.1:n.-31G>T
XM_024448154.1:c.-27+174G>T	XP_024303922.1:n.-27+174G>T
XM_024448155.1:c.-31G>T	XP_024303923.1:n.-31G>T
XR_001747196.2:n.93G>T
XR_001747197.2:n.93G>T
XR_002957009.1:n.93G>T
XR_002957010.1:n.38+174G>T
XR_246103.3:n.93G>T
XR_945810.2:n.93G>T
NM_001324036.2:c.-31G>T	NP_001310965.1:n.-31G>T
NM_001324037.2:c.-31G>T	NP_001310966.1:n.-31G>T
NM_001324038.2:c.-31G>T	NP_001310967.1:n.-31G>T
NR_136675.2:n.226G>T
NR_136676.2:n.226G>T
NR_136678.2:n.226G>T
NM_001324039.2:c.-31G>T	NP_001310968.1:n.-31G>T
NR_136677.2:n.226G>T